2023 Volume 50 Issue 5 Pages 452-459
The purpose of genetic tests in medical checkup is to know the physical constitution in order to prevent or detect diseases at an early stage. We investigate variants which correlate with each disease. Therefore, multifactorial diseases are targeted. Heterozygotes with familial Hypercholesterolemia (FH) occur at a frequency of 1 in 200 to 500 people in Japan. Knowing the results enables preventive management as diet and drugs, which is an advantage for subjects. FH can be diagnosed biochemically. The significance of genetic tests assists in sharing information within the family and knowing their severity and drug susceptibility. LDLR and PCSK9 are the main causative genes. Patients with both LDLR and PCSK9 mutations have particularly high LDL-C levels and a high incidence of coronary artery disease, such as angina pectoris and myocardial infarction. There are already more than 200 genes associated with type 2 diabetes. Target genes differ depending on what kind of panel is used. Similarly, obesity genes can be prevented by nutritional intervention. Positive results of many oncogenes also require management and careful follow-up. Mutations of TP53 develop malignant diseases since young infants, and the lifetime incidence rate of cancer is as high as 100% in females and 73% in males. In recent years, there are institutions where consumers are directly tested by DTC (direct-to-consumer). However, there are many problems because the risks and preventive effects in Japanese people are not fixed. When introducing genetic tests into a health checkup, it is essential to explain with precise knowledge such as the relevance of the disease and the benefits of knowing, to obtain consent, and to have a counseling system and referral to an appropriate institution.
